Biosynthesis and biology of mammalian GPI-anchored proteins

Cross-talks of glycosylphosphatidylinositol biosynthesis with glycosphingolipid biosynthesis and ER-associated degradation

(2020) Yicheng Wang et al.   Nature Communications

Free, unlinked glycosylphosphatidylinositols on mammalian cell surfaces revisited

(2019) Yicheng Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Integrin Mechano-chemical Signaling Generates Plasma Membrane Nanodomains that Promote Cell Spreading

(2019) Joseph Mathew Kalappurakkal et al.   CELL

Misfolded GPI-anchored proteins are escorted through the secretory pathway by ER-derived factors

(2019) Eszter Zavodszky et al.   eLife

GPIHBP1 and Lipoprotein Lipase, Partners in Plasma Triglyceride Metabolism

(2019) Stephen G. Young et al.   Cell Metabolism

Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies

(2019) Alexej Knaus et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

(2019) Yoshiko Murakami et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clustering in the Golgi apparatus governs sorting and function of GPI‐APs in polarized epithelial cells

(2019) Stéphanie Lebreton et al.   FEBS LETTERS

Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation

(2019) Britta Höchsmann et al.   JOURNAL OF CLINICAL INVESTIGATION

Intestinal M cells: Tireless samplers of enteric microbiota

(2019) Takashi Kanaya et al.   TRAFFIC

Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations

(2018) Kosuke Kohashi et al.   BRAIN & DEVELOPMENT

Function of a membrane-embedded domain evolutionarily multiplied in the GPI lipid anchor pathway proteins PIG-B, PIG-M, PIG-U, PIG-W, PIG-V, and PIG-Z

(2018) Birgit Eisenhaber et al.   CELL CYCLE

A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly

(2018) Alistair T. Pagnamenta et al.   HUMAN MUTATION

Identification of a Golgi GPI-N-acetylgalactosamine transferase with tandem transmembrane regions in the catalytic domain

(2018) Tetsuya Hirata et al.   Nature Communications

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

(2018) Alexej Knaus et al.   Genome Medicine

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy

(2018) Thi Tuyet Mai Nguyen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders

(2018) Kara Bellai-Dussault et al.   CLINICAL GENETICS

Impact of glycosylphosphatidylinositol-specific phospholipase D on hepatic diacylglycerol accumulation,steatosis,and insulin resistance in diet-induced obesity

(2018) Shigeki Masuda et al.   AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM

Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy

(2017) Devon L. Johnstone et al.   HUMAN MOLECULAR GENETICS

Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties

(2017) Junpei Tanigawa et al.   HUMAN MUTATION

N-Glycan–dependent protein folding and endoplasmic reticulum retention regulate GPI-anchor processing

(2017) Yi-Shi Liu et al.   JOURNAL OF CELL BIOLOGY

Targeting and translocation of proteins to the endoplasmic reticulum at a glance

(2017) Naama Aviram et al.   JOURNAL OF CELL SCIENCE

Negative regulation of urokinase receptor activity by a GPI-specific phospholipase C in breast cancer cells

(2017) Michiel van Veen et al.   eLife

Parasite Carbohydrate Vaccines

(2017) Jonnel A. Jaurigue et al.   Frontiers in Cellular and Infection Microbiology

Paroxysmal nocturnal haemoglobinuria

(2017) Anita Hill et al.   Nature Reviews Disease Primers

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

(2016) Periklis Makrythanasis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Glycosylphosphatidylinositol-anchored proteins: Membrane organization and transport

(2016) Chiara Zurzolo et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Limited ER quality control for GPI-anchored proteins

(2016) Natalia Sikorska et al.   JOURNAL OF CELL BIOLOGY

A GPI processing phospholipase A2, PGAP6, modulates Nodal signaling in embryos by shedding CRIPTO

(2016) Gun-Hee Lee et al.   JOURNAL OF CELL BIOLOGY

Biomedical applications of glycosylphosphatidylinositol-anchored proteins

(2016) Susanne Heider et al.   JOURNAL OF LIPID RESEARCH

Mutations in the phosphatidylinositol glycan C ( PIGC ) gene are associated with epilepsy and intellectual disability

(2016) Simon Edvardson et al.   JOURNAL OF MEDICAL GENETICS

Identification of glycosylphosphatidylinositol-anchored proteins and ω-sites using TiO2-based affinity purification followed by hydrogen fluoride treatment

(2016) Yusuke Masuishi et al.   Journal of Proteomics

Transbilayer Lipid Interactions Mediate Nanoclustering of Lipid-Anchored Proteins

(2015) Riya Raghupathy et al.   CELL

Glycosyltransferase complexes in eukaryotes: long-known, prevalent but still unrecognized

(2015) Sakari Kellokumpu et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

COPII Coat Composition Is Actively Regulated by Luminal Cargo Maturation

(2015) Javier Manzano-Lopez et al.   CURRENT BIOLOGY

Mutations inPIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

(2015) Biljana Ilkovski et al.   HUMAN MOLECULAR GENETICS

Sialic Acid on the Glycosylphosphatidylinositol Anchor Regulates PrP-mediated Cell Signaling and Prion Formation

(2015) Clive Bate et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Trafficking of glycosylphosphatidylinositol anchored proteins from the endoplasmic reticulum to the cell surface

(2015) Manuel Muñiz et al.   JOURNAL OF LIPID RESEARCH

Biosynthesis of GPI-anchored proteins: special emphasis on GPI lipid remodeling

(2015) Taroh Kinoshita et al.   JOURNAL OF LIPID RESEARCH

Genome-Wide Screening of Genes Required for Glycosylphosphatidylinositol Biosynthesis

(2015) Yao Rong et al.   PLoS One

Complementation analysis reveals a potential role of humanARV1in GPI anchor biosynthesis

(2015) Atsuko Ikeda et al.   YEAST

Botulinum toxin A complex exploits intestinal M cells to enter the host and exert neurotoxicity

(2015) Takuhiro Matsumura et al.   Nature Communications

Comparative Haploid Genetic Screens Reveal Divergent Pathways in the Biogenesis and Trafficking of Glycophosphatidylinositol-Anchored Proteins

(2015) Eric M. Davis et al.   Cell Reports

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

(2015) Anas M. Alazami et al.   Cell Reports

Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families

(2015) Hanan E. Shamseldin et al.   GENOME BIOLOGY

Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation

(2014) Malcolm F. Howard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

GPI-Anchored Protein Complex, LY6K/TEX101, Is Required for Sperm Migration into the Oviduct and Male Fertility in Mice1

(2014) Yoshitaka Fujihara et al.   BIOLOGY OF REPRODUCTION

ER Stress-Induced Clearance of Misfolded GPI-Anchored Proteins via the Secretory Pathway

(2014) Prasanna Satpute-Krishnan et al.   CELL

Transamidase subunit GAA1/GPAA1 is a M28 family metallo-peptide-synthetase that catalyzes the peptide bond formation between the substrate protein’s omega-site and the GPI lipid anchor’s phosphoethanolamine

(2014) Birgit Eisenhaber et al.   CELL CYCLE

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

(2014) H. C. Martin et al.   HUMAN MOLECULAR GENETICS

The α-Helical Region in p24γ2Subunit of p24 Protein Cargo Receptor Is Pivotal for the Recognition and Transport of Glycosylphosphatidylinositol-anchored Proteins

(2014) Romina Theiler et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Sorting of GPI-anchored proteins from yeast to mammals - common pathways at different sites?

(2014) M. Muniz et al.   JOURNAL OF CELL SCIENCE

Cdc1 removes the ethanolamine phosphate of the first mannose of GPI anchors and thereby facilitates the integration of GPI proteins into the yeast cell wall

(2014) Hector M. Vazquez et al.   MOLECULAR BIOLOGY OF THE CELL

Golgi sorting regulates organization and activity of GPI proteins at apical membranes

(2014) Simona Paladino et al.   Nature Chemical Biology

Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3

(2014) Mitsuko Nakashima et al.   NEUROGENETICS

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features

(2014) M. Kato et al.   NEUROLOGY

UniProt: a hub for protein information

(2014)   NUCLEIC ACIDS RESEARCH

Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy

(2014) Yoshiko Murakami et al.   PLoS Genetics

PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome

(2013) Peter M. Krawitz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability

(2013) Lars Hansen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT

(2013) P. M. Krawitz et al.   BLOOD

A Network of Cytosolic Factors Targets SRP-Independent Proteins to the Endoplasmic Reticulum

(2013) Tslil Ast et al.   CELL

The emerging physiological roles of the glycerophosphodiesterase family

(2013) Daniela Corda et al.   FEBS Journal

Cooperativity of imprinted genes inactivated by acquired chromosome 20q deletions

(2013) Athar Aziz et al.   JOURNAL OF CLINICAL INVESTIGATION

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations inPIGT

(2013) Malin Kvarnung et al.   JOURNAL OF MEDICAL GENETICS

Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations inPIGWis associated with West syndrome and hyperphosphatasia with mental retardation syndrome

(2013) Tomohiro Chiyonobu et al.   JOURNAL OF MEDICAL GENETICS

Vitamin B6-responsive epilepsy due to inherited GPI deficiency

(2013) I. Kuki et al.   NEUROLOGY

Expression of TEX101, regulated by ACE, is essential for the production of fertile mouse spermatozoa

(2013) Y. Fujihara et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

GDE2 Promotes Neurogenesis by Glycosylphosphatidylinositol-Anchor Cleavage of RECK

(2013) S. Park et al.   SCIENCE

Choroid plexus transcytosis and exosome shuttling deliver folate into brain parenchyma

(2013) Marcel Grapp et al.   Nature Communications

The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria

(2012) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation

(2012) Peter M. Krawitz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

(2012) Bobby G. Ng et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Transient GPI-anchored protein homodimers are units for raft organization and function

(2012) Kenichi G N Suzuki et al.   Nature Chemical Biology

CREST - a large and diverse superfamily of putative transmembrane hydrolases

(2011) Jimin Pei et al.   Biology Direct

Analysis of Membrane Topology and Identification of Essential Residues for the Yeast Endoplasmic Reticulum Inositol Acyltransferase Gwt1p

(2011) Koji Sagane et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Sorting of GPI-anchored proteins into ER exit sites by p24 proteins is dependent on remodeled GPI

(2011) Morihisa Fujita et al.   JOURNAL OF CELL BIOLOGY

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN

(2011) G. Maydan et al.   JOURNAL OF MEDICAL GENETICS

The yeast p24 complex regulates GPI-anchored protein transport and quality control by monitoring anchor remodeling

(2011) Guillaume A. Castillon et al.   MOLECULAR BIOLOGY OF THE CELL

GDE2 Regulates Subtype-Specific Motor Neuron Generation through Inhibition of Notch Signaling

(2011) Priyanka Sabharwal et al.   NEURON

GPIHBP1 Is Responsible for the Entry of Lipoprotein Lipase into Capillaries

(2010) Brandon S.J. Davies et al.   Cell Metabolism

Selective export of human GPI-anchored proteins from the endoplasmic reticulum

(2010) C. Bonnon et al.   JOURNAL OF CELL SCIENCE

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

(2010) Peter M Krawitz et al.   NATURE GENETICS

GPI Glycan Remodeling by PGAP5 Regulates Transport of GPI-Anchored Proteins from the ER to the Golgi

(2009) Morihisa Fujita et al.   CELL

Peroxisome dependency of alkyl-containing GPI-anchor biosynthesis in the endoplasmic reticulum

(2009) N. Kanzawa et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Nanoclusters of GPI-Anchored Proteins Are Formed by Cortical Actin-Driven Activity

(2008) Debanjan Goswami et al.   CELL

Retrotranslocation of Prion Proteins from the Endoplasmic Reticulum by Preventing GPI Signal Transamidation

(2008) Aarthi Ashok et al.   MOLECULAR BIOLOGY OF THE CELL

Yeast ARV1 Is Required for Efficient Delivery of an Early GPI Intermediate to the First Mannosyltransferase during GPI Assembly and Controls Lipid Flow from the Endoplasmic Reticulum

(2008) Kentaro Kajiwara et al.   MOLECULAR BIOLOGY OF THE CELL